Histone Acetylation and Methylation in Rare Diseases Review

Burcu Akman authored a review article exploring histone modification abnormalities in rare diseases, published on figshare in April 2026. The 46.2 KB document likely contains a systematic analysis of histone-modifying enzyme mutations and their associations with Mendelian phenotypes. It focuses on functional convergence of genes and variant distribution across syndromes like Kabuki, Rubinstein-Taybi, and Weaver.

Use Cases

• Identify potential disease genes based on intolerance to loss-of-function variants mentioned in the review
• Analyze phenotypic convergence across distinct histone-modifying genes described in the document
• Map associations between specific histone-modifying complex subunits and Mendelian phenotypes
• Study the distribution of variants in histone modifier genes across rare disease syndromes

Strengths

• Document is licensed under CC-BY-4.0, allowing open reuse
• Last updated date is explicitly provided as 2026-04-09
• File size is precisely 46.2 KB

Limitations

• Row count and column-level documentation are absent; field semantics must be inferred after download
• The dataset is a single 46.2 KB document, indicating a limited scope of data
• Description metadata is limited; actual data quality requires manual inspection after download

Provenance

Source

Burcu Akman

Freshness

Last updated 2026-04-09 05:14:43; freshness should be verified